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The NIHR BioResource Rare Diseases BRIDGE consortium sequencing projects

The NIHR BioResource Rare Diseases BRIDGE consortium is a collaboration between 13 Rare Disease projects that aim to discover the genetic sequence variants underlying unresolved inherited disorders and to improve identification of already identified high penetrance variants. BRIDGE projects cover a variety of rare disease research areas including Cardiovascular, Infection and Immunity and Neuroscience. The consortium aims to sequence 8,000 samples across the different projects by 2017.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003423 Illumina HiSeq 2000 149
EGAD00001004513 Illumina HiSeq 2000 -
EGAD00001004514 Illumina HiSeq 2000 -
EGAD00001004515 Illumina HiSeq 2000 2
EGAD00001004516 Illumina HiSeq 2000 -
EGAD00001004517 Illumina HiSeq 2000 -
EGAD00001004518 Illumina HiSeq 2000 -
EGAD00001004519 Illumina HiSeq 2000 1
EGAD00001004520 Illumina HiSeq 2000 -
EGAD00001004521 Illumina HiSeq 2000 -
EGAD00001004522 Illumina HiSeq 2000 -
EGAD00001004523 Illumina HiSeq 2000 -
EGAD00001004524 Illumina HiSeq 2000 -
EGAD00001004525 Illumina HiSeq 2000 -
EGAD00001005122 Illumina HiSeq 2000 -
EGAD00001005123 Illumina HiSeq 2000 -
EGAD00001007885 -
Publications Citations
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet 100: 2017 75-90
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Sci Rep 8: 2018 1300
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Nat Commun 9: 2018 1416
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet 103: 2018 3-18
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Genome Med 10: 2018 95
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
J Exp Med 216: 2019 1986-1998
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Front Genet 10: 2019 578
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
J Am Soc Nephrol 31: 2020 365-373
Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.
Blood Adv 4: 2020 920-924
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Mol Genet Genomic Med 8: 2020 e1106
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature 583: 2020 90-95
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature 583: 2020 96-102
Development and validation of a universal blood donor genotyping platform: a multinational prospective study.
Blood Adv 4: 2020 3495-3506
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Nat Commun 13: 2022 4840
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet 110: 2023 1343-1355